Down Syndrome-Hirschsprung Linked throughRETEnhancer
نویسندگان
چکیده
منابع مشابه
A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease.
Down syndrome (DS) is recognized by characteristic facial features, intellectual disability, and an increased risk for cardiac malformations and duodenal atresia. Recently, Hirschsprung disease (HSCR), or congenital aganglionic megacolon, has been seen more often among patients with DS. Given the systemic nature of DS-related features, it is natural to attribute neonatal complications to the ch...
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A two days-old newborn female patient with Down Syndrome was admitted to our hospital with complaint of vomiting. Physical examination was unremarkable except for the typical physical appearance of Down Syndrome. An abdominal radiography showed the double-bubble sign, characteristic for duodenal obstruction, and the patient was operated with prediagnosis of duodenal atresia. However, during the...
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Hirschsprung disease (HSCR) genetics is a paradigm for the study and understanding of multigenic disorders. Association between Down syndrome and HSCR suggests that genetic factors that predispose to HSCR map to chromosome 21. To identify these additional factors, we performed a dose-dependent association study on chromosome 21 in Down syndrome patients with HSCR. Assessing 10,895 SNPs in 26 Ca...
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Objectives: Stigma is a negative value. Many behaviors are to ward Stigmatized people. Down syndrome is one of conditions with Stigma. The aim of this study is to determine the sources of labeling in iranian Down syndrome. Methods: The View of 105 Down syndrome families concerning stigma were conducted. All of Down syndrome was under 50 years. Results: A fair proportion of Down syndrome f...
متن کاملAssociation of Joubert syndrome and Hirschsprung disease.
BACKGROUND Association between Joubert Syndrome and Hirschsprung disease is rare. CASE CHARACTERISTICS A 9-month-old girl having developmental delay and chronic constipation. OBSERVATION Molar tooth sign on MRI brain and absence of ganglion cells in rectal biopsy specimen. OUTCOME Child underwent surgical repair for Hirschsprung disease. MESSAGE Association of these two rare entities co...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2009
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.21030